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Adeno-Associated Virus Gene Transfer Ameliorates Progression of Skeletal Lesions in Mucopolysaccharidosis IVA Mice. [PDF]

Hum Gene Ther
Herreño-Pachón AM, Sawamoto K, Stapleton M, Khan S, Piechnik M, Álvarez JV, Tomatsu S.   +6 more
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Intellectual and neurological functioning in Morquio syndrome (MPS IVa)

Journal of Inherited Metabolic Disease, 2012
AbstractMucopolysaccharidosis type IVa (MPS IVa, Morquio syndrome OMIM #253000) is a lysosomal storage disease caused by deficiency in N‐acetylgalactosamine‐6‐sulfatase (GALNS, EC 3.1.6.4; encoded by GALNS gene at 16q24.3). Unlike other MPS disorders involving excessive heparan and dermatan sulfate, Morquio syndrome has not been associated with ...
J E, Davison, S, Kearney, J, Horton, K, Foster, A C, Peet, C J, Hendriksz   +5 more
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Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred

American Journal of Medical Genetics, 1985
AbstractA patient is described who has Morquio syndrome (MPS IVA). He is a member of the Hutterite Brethren and genealogic analysis discloses a high inbreeding coefficient for the proband. The proband's sibship is segregating two autosomal recessive disorders, ie, MPS IVA and infantile hypophosphatasia.
R. B. Lowry, F. F. Snyder, R. L. Wesenberg, G. A. Machin, D. A. Applegarth, K. Morgan, R. J. Carter, J. R. Toone, T. M. Holmes, R. D. Dewar, John M. Opitz, James F. Reynolds   +11 more
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Morquio syndrome: Clinical findings in 11 patients with MPS IVA and 2 patients with MPS IVB

Human Genetics, 1981
Genetic heterogeneity of the Morquio syndrome has been known since deficiency of β-galactosidase was detected in some patients in addition to the deficiency of N-acetylgalactosamine-6-sulphate sulphatase in the classical form of Morquio syndrome. The clinical findings of 11 patients with MPS IVA, the classical form, and 2 patients with MPS IV B, a ...
W, Holzgreve, H, Gröbe, K, von Figura, H, Kresse, H, Beck, J F, Mattei   +5 more
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Enzyme replacement therapy (ERT) procedure for mucopolysaccharidosis type II (MPS II) by intraventricular administration (IVA) in murine MPS II

Molecular Genetics and Metabolism, 2012
Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is a lysosomal storage disorder caused by a deficiency of iduronate-2-sulfatase (IDS) and is characterized by the accumulation of glycosaminoglycans (GAGs). MPS II has been treated by hematopoietic stem cell therapy (HSCT)/enzyme replacement therapy (ERT), but its effectiveness in the central ...
Takashi, Higuchi, Hiromi, Shimizu, Takahiro, Fukuda, Shiho, Kawagoe, Juri, Matsumoto, Yohta, Shimada, Hiroshi, Kobayashi, Hiroyuki, Ida, Toya, Ohashi, Hideto, Morimoto, Tohru, Hirato, Katsuya, Nishino, Yoshikatsu, Eto   +12 more
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N-Acetylgalactosamine-6-sulfatase protein detection in MPS IVA patient and unaffected control samples

Clinica Chimica Acta, 2007
Mucopolysaccharidosis type IVA (MPS IVA; Morquio syndrome) is a lysosomal storage disorder caused by a deficiency in the activity of the lysosomal hydrolase N-acetylgalactosamine-6-sulfatase (GALNS). MPS IVA patients can present with severe myelopathy, hearing loss, heart valve involvement, short trunk/dwarfism and corneal clouding.
Parkinson-Lawrence, E., Muller, V., Hopwood, J., Brooks, D.   +3 more
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Evaluation of Urinary Keratan Sulfate Disaccharides in Mps Iva Patients Using UPLC–MS/MS

Bioanalysis, 2016
Glycosaminoglycan analysis for the diagnosis of Morquio patients has been daunting due to lack of sensitivity/specificity of the dimethylmethylene blue-based spectrophotometry methodology, routinely used by several clinical laboratories. MS methods have been devised for quantification of keratan sulfate for Morquio patients, but some used tributylamine
Christiane, Auray-Blais, Pamela, Lavoie, Bruno, Maranda, Michel, Boutin   +3 more
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Outcomes from 18 years of cervical spine surgery in MPS IVA: a single centre’s experience

Child's Nervous System, 2018
This study examines the long-term outcomes of paediatric Morquio (MPS IVA) patients undergoing cervical spine surgery and evaluates the factors that impacting this.A retrospective review was performed on all MPS IVA patients undergoing cervical spine surgery, since the introduction of standardised neuroradiological screening. The impact of preoperative
A. Broomfield, K. Zuberi, J. Mercer, G. Moss, N. Finnegan, P. Hensman, R. Walker, S. Bukhari, N. B. Wright, F. Stewart, S. A. Jones, R. Ramirez   +11 more
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Lower Extremity Deformity Management in MPS IVA, Morquio-Brailsford Syndrome: Preliminary Report of Hemiepiphysiodesis Correction of Genu Valgum

Journal of Pediatric Orthopaedics, 2016
Background: Morquio-Brailsford syndrome or mucopolysaccharidosis type IV-A (MPS IV-A) is an inherited metabolic disease in which skeletal deformities can be extreme. An international registry has shown that 46% of patients are unable to walk 200 m and 30% use a wheelchair.
George A, Cooper, Thomas, Southorn, Deborah M, Eastwood, C Edward, Bache   +3 more
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